WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197088358G>A | CA422672206 | ASPM | n.3346C>T c.10059C>T (p.Tyr3353=) c.10281C>T (p.Tyr3427=) c.10035C>T (p.Tyr3345=) c.5304C>T (p.Tyr1768=) c.3054C>T (p.Tyr1018=) c.4017C>T (p.Tyr1339=) | |
| 1 | g.197088358G>C | CA343998269 | ASPM | n.3346C>G c.10059C>G (p.Tyr3353Ter) c.10281C>G (p.Tyr3427Ter) c.10035C>G (p.Tyr3345Ter) c.5304C>G (p.Tyr1768Ter) c.3054C>G (p.Tyr1018Ter) c.4017C>G (p.Tyr1339Ter) | |
| 1 | g.197088358G= | CA1143355779 | ASPM | n.3346C= c.10059C= (p.Tyr3353=) c.10281C= (p.Tyr3427=) c.10035C= (p.Tyr3345=) c.5304C= (p.Tyr1768=) c.3054C= (p.Tyr1018=) c.4017C= (p.Tyr1339=) | |
| 1 | g.197088358G>T | CA342211 | ASPM | n.3346C>A c.10059C>A (p.Tyr3353Ter) c.10281C>A (p.Tyr3427Ter) c.10035C>A (p.Tyr3345Ter) c.5304C>A (p.Tyr1768Ter) c.3054C>A (p.Tyr1018Ter) c.4017C>A (p.Tyr1339Ter) | ClinVar dbSNP |
| 1 | g.197088359T>A | CA343998277 | ASPM | n.3345A>T c.10058A>T (p.Tyr3353Phe) c.10280A>T (p.Tyr3427Phe) c.10034A>T (p.Tyr3345Phe) c.5303A>T (p.Tyr1768Phe) c.3053A>T (p.Tyr1018Phe) c.4016A>T (p.Tyr1339Phe) | |
| 1 | g.197088359T>C | CA343998285 | ASPM | n.3345A>G c.10058A>G (p.Tyr3353Cys) c.10280A>G (p.Tyr3427Cys) c.10034A>G (p.Tyr3345Cys) c.5303A>G (p.Tyr1768Cys) c.3053A>G (p.Tyr1018Cys) c.4016A>G (p.Tyr1339Cys) | |
| 1 | g.197088359T>G | CA343998282 | ASPM | n.3345A>C c.10058A>C (p.Tyr3353Ser) c.10280A>C (p.Tyr3427Ser) c.10034A>C (p.Tyr3345Ser) c.5303A>C (p.Tyr1768Ser) c.3053A>C (p.Tyr1018Ser) c.4016A>C (p.Tyr1339Ser) | |
| 1 | g.197088362_197088363del | CA2649660432 | ASPM | n.3344_3345del c.10057_10058del (p.Tyr3353ProfsTer6) c.10279_10280del (p.Tyr3427ProfsTer6) c.10033_10034del (p.Tyr3345ProfsTer6) c.5302_5303del (p.Tyr1768ProfsTer6) c.3052_3053del (p.Tyr1018ProfsTer6) c.4015_4016del (p.Tyr1339ProfsTer6) | gnomAD v4 |
| 1 | g.197088360A= | CA1141792598 | ASPM | n.3344T= c.10057T= (p.Tyr3353=) c.10279T= (p.Tyr3427=) c.10033T= (p.Tyr3345=) c.5302T= (p.Tyr1768=) c.3052T= (p.Tyr1018=) c.4015T= (p.Tyr1339=) | |
| 1 | g.197088360A>C | CA343998288 | ASPM | n.3344T>G c.10057T>G (p.Tyr3353Asp) c.10279T>G (p.Tyr3427Asp) c.10033T>G (p.Tyr3345Asp) c.5302T>G (p.Tyr1768Asp) c.3052T>G (p.Tyr1018Asp) c.4015T>G (p.Tyr1339Asp) | |
| 1 | g.197088360A>G | CA1308800 | ASPM | n.3344T>C c.10057T>C (p.Tyr3353His) c.10279T>C (p.Tyr3427His) c.10033T>C (p.Tyr3345His) c.5302T>C (p.Tyr1768His) c.3052T>C (p.Tyr1018His) c.4015T>C (p.Tyr1339His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088360A>T | CA343998293 | ASPM | n.3344T>A c.10057T>A (p.Tyr3353Asn) c.10279T>A (p.Tyr3427Asn) c.10033T>A (p.Tyr3345Asn) c.5302T>A (p.Tyr1768Asn) c.3052T>A (p.Tyr1018Asn) c.4015T>A (p.Tyr1339Asn) | |
| 1 | g.197088361T>A | CA422672208 | ASPM | n.3343A>T c.10056A>T (p.Ile3352=) c.10278A>T (p.Ile3426=) c.10032A>T (p.Ile3344=) c.5301A>T (p.Ile1767=) c.3051A>T (p.Ile1017=) c.4014A>T (p.Ile1338=) | |
| 1 | g.197088361T>C | CA1308801 | ASPM | n.3343A>G c.10056A>G (p.Ile3352Met) c.10278A>G (p.Ile3426Met) c.10032A>G (p.Ile3344Met) c.5301A>G (p.Ile1767Met) c.3051A>G (p.Ile1017Met) c.4014A>G (p.Ile1338Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088361T>G | CA422672207 | ASPM | n.3343A>C c.10056A>C (p.Ile3352=) c.10278A>C (p.Ile3426=) c.10032A>C (p.Ile3344=) c.5301A>C (p.Ile1767=) c.3051A>C (p.Ile1017=) c.4014A>C (p.Ile1338=) | |
| 1 | g.197088361T= | CA1217923561 | ASPM | n.3343A= c.10056A= (p.Ile3352=) c.10278A= (p.Ile3426=) c.10032A= (p.Ile3344=) c.5301A= (p.Ile1767=) c.3051A= (p.Ile1017=) c.4014A= (p.Ile1338=) | |
| 1 | g.197088361_197088362insCC | CA1308802 | ASPM | n.3342_3343insGG c.10055_10056insGG (p.Ile3352MetfsTer30) c.10277_10278insGG (p.Ile3426MetfsTer30) c.10031_10032insGG (p.Ile3344MetfsTer30) c.5300_5301insGG (p.Ile1767MetfsTer30) c.3050_3051insGG (p.Ile1017MetfsTer30) c.4013_4014insGG (p.Ile1338MetfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197088362A>C | CA343998313 | ASPM | n.3342T>G c.10055T>G (p.Ile3352Arg) c.10277T>G (p.Ile3426Arg) c.10031T>G (p.Ile3344Arg) c.5300T>G (p.Ile1767Arg) c.3050T>G (p.Ile1017Arg) c.4013T>G (p.Ile1338Arg) | |
| 1 | g.197088362A>G | CA343998310 | ASPM | n.3342T>C c.10055T>C (p.Ile3352Thr) c.10277T>C (p.Ile3426Thr) c.10031T>C (p.Ile3344Thr) c.5300T>C (p.Ile1767Thr) c.3050T>C (p.Ile1017Thr) c.4013T>C (p.Ile1338Thr) | |
| 1 | g.197088362A>T | CA343998303 | ASPM | n.3342T>A c.10055T>A (p.Ile3352Lys) c.10277T>A (p.Ile3426Lys) c.10031T>A (p.Ile3344Lys) c.5300T>A (p.Ile1767Lys) c.3050T>A (p.Ile1017Lys) c.4013T>A (p.Ile1338Lys) | |
| 1 | g.197088363T>A | CA343998318 | ASPM | n.3341A>T c.10054A>T (p.Ile3352Leu) c.10276A>T (p.Ile3426Leu) c.10030A>T (p.Ile3344Leu) c.5299A>T (p.Ile1767Leu) c.3049A>T (p.Ile1017Leu) c.4012A>T (p.Ile1338Leu) | |
| 1 | g.197088363T>C | CA343998320 | ASPM | n.3341A>G c.10054A>G (p.Ile3352Val) c.10276A>G (p.Ile3426Val) c.10030A>G (p.Ile3344Val) c.5299A>G (p.Ile1767Val) c.3049A>G (p.Ile1017Val) c.4012A>G (p.Ile1338Val) | gnomAD v4 |
| 1 | g.197088363T>G | CA343998323 | ASPM | n.3341A>C c.10054A>C (p.Ile3352Leu) c.10276A>C (p.Ile3426Leu) c.10030A>C (p.Ile3344Leu) c.5299A>C (p.Ile1767Leu) c.3049A>C (p.Ile1017Leu) c.4012A>C (p.Ile1338Leu) | |
| 1 | g.197088364C>A | CA343998328 | ASPM | n.3340G>T c.10053G>T (p.Gln3351His) c.10275G>T (p.Gln3425His) c.10029G>T (p.Gln3343His) c.5298G>T (p.Gln1766His) c.3048G>T (p.Gln1016His) c.4011G>T (p.Gln1337His) | |
| 1 | g.197088364C= | CA1148465974 | ASPM | n.3340G= c.10053G= (p.Gln3351=) c.10275G= (p.Gln3425=) c.10029G= (p.Gln3343=) c.5298G= (p.Gln1766=) c.3048G= (p.Gln1016=) c.4011G= (p.Gln1337=) | |
| 1 | g.197088364C>G | CA343998332 | ASPM | n.3340G>C c.10053G>C (p.Gln3351His) c.10275G>C (p.Gln3425His) c.10029G>C (p.Gln3343His) c.5298G>C (p.Gln1766His) c.3048G>C (p.Gln1016His) c.4011G>C (p.Gln1337His) | COSMIC |
| 1 | g.197088364C>T | CA1308803 | ASPM | n.3340G>A c.10053G>A (p.Gln3351=) c.10275G>A (p.Gln3425=) c.10029G>A (p.Gln3343=) c.5298G>A (p.Gln1766=) c.3048G>A (p.Gln1016=) c.4011G>A (p.Gln1337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088365T>A | CA343998333 | ASPM | n.3339A>T c.10052A>T (p.Gln3351Leu) c.10274A>T (p.Gln3425Leu) c.10028A>T (p.Gln3343Leu) c.5297A>T (p.Gln1766Leu) c.3047A>T (p.Gln1016Leu) c.4010A>T (p.Gln1337Leu) | |
| 1 | g.197088365T>C | CA343998335 | ASPM | n.3339A>G c.10052A>G (p.Gln3351Arg) c.10274A>G (p.Gln3425Arg) c.10028A>G (p.Gln3343Arg) c.5297A>G (p.Gln1766Arg) c.3047A>G (p.Gln1016Arg) c.4010A>G (p.Gln1337Arg) | |
| 1 | g.197088365T>G | CA343998339 | ASPM | n.3339A>C c.10052A>C (p.Gln3351Pro) c.10274A>C (p.Gln3425Pro) c.10028A>C (p.Gln3343Pro) c.5297A>C (p.Gln1766Pro) c.3047A>C (p.Gln1016Pro) c.4010A>C (p.Gln1337Pro) | |
| 1 | g.197088366G>A | CA343998352 | ASPM | n.3338C>T c.10051C>T (p.Gln3351Ter) c.10273C>T (p.Gln3425Ter) c.10027C>T (p.Gln3343Ter) c.5296C>T (p.Gln1766Ter) c.3046C>T (p.Gln1016Ter) c.4009C>T (p.Gln1337Ter) | |
| 1 | g.197088366G>C | CA343998347 | ASPM | n.3338C>G c.10051C>G (p.Gln3351Glu) c.10273C>G (p.Gln3425Glu) c.10027C>G (p.Gln3343Glu) c.5296C>G (p.Gln1766Glu) c.3046C>G (p.Gln1016Glu) c.4009C>G (p.Gln1337Glu) | |
| 1 | g.197088366G>T | CA343998344 | ASPM | n.3338C>A c.10051C>A (p.Gln3351Lys) c.10273C>A (p.Gln3425Lys) c.10027C>A (p.Gln3343Lys) c.5296C>A (p.Gln1766Lys) c.3046C>A (p.Gln1016Lys) c.4009C>A (p.Gln1337Lys) | |
| 1 | g.197088367C>A | CA343998354 | ASPM | n.3337G>T c.10050G>T (p.Leu3350Phe) c.10272G>T (p.Leu3424Phe) c.10026G>T (p.Leu3342Phe) c.5295G>T (p.Leu1765Phe) c.3045G>T (p.Leu1015Phe) c.4008G>T (p.Leu1336Phe) | |
| 1 | g.197088367C= | CA1217923566 | ASPM | n.3337G= c.10050G= (p.Leu3350=) c.10272G= (p.Leu3424=) c.10026G= (p.Leu3342=) c.5295G= (p.Leu1765=) c.3045G= (p.Leu1015=) c.4008G= (p.Leu1336=) | |
| 1 | g.197088367C>G | CA343998357 | ASPM | n.3337G>C c.10050G>C (p.Leu3350Phe) c.10272G>C (p.Leu3424Phe) c.10026G>C (p.Leu3342Phe) c.5295G>C (p.Leu1765Phe) c.3045G>C (p.Leu1015Phe) c.4008G>C (p.Leu1336Phe) | |
| 1 | g.197088367C>T | CA35861089 | ASPM | n.3337G>A c.10050G>A (p.Leu3350=) c.10272G>A (p.Leu3424=) c.10026G>A (p.Leu3342=) c.5295G>A (p.Leu1765=) c.3045G>A (p.Leu1015=) c.4008G>A (p.Leu1336=) | dbSNP |
| 1 | g.197088368A>C | CA343998362 | ASPM | n.3336T>G c.10049T>G (p.Leu3350Trp) c.10271T>G (p.Leu3424Trp) c.10025T>G (p.Leu3342Trp) c.5294T>G (p.Leu1765Trp) c.3044T>G (p.Leu1015Trp) c.4007T>G (p.Leu1336Trp) | |
| 1 | g.197088368A>G | CA343998373 | ASPM | n.3336T>C c.10049T>C (p.Leu3350Ser) c.10271T>C (p.Leu3424Ser) c.10025T>C (p.Leu3342Ser) c.5294T>C (p.Leu1765Ser) c.3044T>C (p.Leu1015Ser) c.4007T>C (p.Leu1336Ser) | |
| 1 | g.197088368A>T | CA343998386 | ASPM | n.3336T>A c.10049T>A (p.Leu3350Ter) c.10271T>A (p.Leu3424Ter) c.10025T>A (p.Leu3342Ter) c.5294T>A (p.Leu1765Ter) c.3044T>A (p.Leu1015Ter) c.4007T>A (p.Leu1336Ter) | |
| 1 | g.197088371del | CA2649660433 | ASPM | n.3336del c.10049del (p.Leu3350CysfsTer?) c.10271del (p.Leu3424CysfsTer?) c.10025del (p.Leu3342CysfsTer?) c.5294del (p.Leu1765CysfsTer?) c.3044del (p.Leu1015CysfsTer?) c.4007del (p.Leu1336CysfsTer?) | gnomAD v4 |
| 1 | g.197088369A>C | CA343998397 | ASPM | n.3335T>G c.10048T>G (p.Leu3350Val) c.10270T>G (p.Leu3424Val) c.10024T>G (p.Leu3342Val) c.5293T>G (p.Leu1765Val) c.3043T>G (p.Leu1015Val) c.4006T>G (p.Leu1336Val) | |
| 1 | g.197088369A>G | CA422672209 | ASPM | n.3335T>C c.10048T>C (p.Leu3350=) c.10270T>C (p.Leu3424=) c.10024T>C (p.Leu3342=) c.5293T>C (p.Leu1765=) c.3043T>C (p.Leu1015=) c.4006T>C (p.Leu1336=) | |
| 1 | g.197088369A>T | CA343998399 | ASPM | n.3335T>A c.10048T>A (p.Leu3350Met) c.10270T>A (p.Leu3424Met) c.10024T>A (p.Leu3342Met) c.5293T>A (p.Leu1765Met) c.3043T>A (p.Leu1015Met) c.4006T>A (p.Leu1336Met) | |
| 1 | g.197088370A>C | CA422672210 | ASPM | n.3334T>G c.10047T>G (p.Leu3349=) c.10269T>G (p.Leu3423=) c.10023T>G (p.Leu3341=) c.5292T>G (p.Leu1764=) c.3042T>G (p.Leu1014=) c.4005T>G (p.Leu1335=) | |
| 1 | g.197088370A>G | CA422672211 | ASPM | n.3334T>C c.10047T>C (p.Leu3349=) c.10269T>C (p.Leu3423=) c.10023T>C (p.Leu3341=) c.5292T>C (p.Leu1764=) c.3042T>C (p.Leu1014=) c.4005T>C (p.Leu1335=) | |
| 1 | g.197088370A>T | CA422672212 | ASPM | n.3334T>A c.10047T>A (p.Leu3349=) c.10269T>A (p.Leu3423=) c.10023T>A (p.Leu3341=) c.5292T>A (p.Leu1764=) c.3042T>A (p.Leu1014=) c.4005T>A (p.Leu1335=) | |
| 1 | g.197088371A>C | CA343998409 | ASPM | n.3333T>G c.10046T>G (p.Leu3349Arg) c.10268T>G (p.Leu3423Arg) c.10022T>G (p.Leu3341Arg) c.5291T>G (p.Leu1764Arg) c.3041T>G (p.Leu1014Arg) c.4004T>G (p.Leu1335Arg) | |
| 1 | g.197088371A>G | CA343998407 | ASPM | n.3333T>C c.10046T>C (p.Leu3349Pro) c.10268T>C (p.Leu3423Pro) c.10022T>C (p.Leu3341Pro) c.5291T>C (p.Leu1764Pro) c.3041T>C (p.Leu1014Pro) c.4004T>C (p.Leu1335Pro) | |
| 1 | g.197088371A>T | CA343998408 | ASPM | n.3333T>A c.10046T>A (p.Leu3349His) c.10268T>A (p.Leu3423His) c.10022T>A (p.Leu3341His) c.5291T>A (p.Leu1764His) c.3041T>A (p.Leu1014His) c.4004T>A (p.Leu1335His) |